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Aliases for BTD Gene

Aliases for BTD Gene

  • Biotinidase 2 3 5
  • EC 4 63
  • Biotinase 3 4
  • EC 3.5.1 63

External Ids for BTD Gene

Previous GeneCards Identifiers for BTD Gene

  • GC03P015572
  • GC03P015619
  • GC03P015620

Summaries for BTD Gene

Entrez Gene Summary for BTD Gene

  • The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]

GeneCards Summary for BTD Gene

BTD (Biotinidase) is a Protein Coding gene. Diseases associated with BTD include Biotinidase Deficiency and Multiple Carboxylase Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and biotin carboxylase activity. An important paralog of this gene is VNN2.

UniProtKB/Swiss-Prot for BTD Gene

  • Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTD Gene

Genomics for BTD Gene

Regulatory Elements for BTD Gene

Enhancers for BTD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BTD on UCSC Golden Path with GeneCards custom track

Promoters for BTD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BTD on UCSC Golden Path with GeneCards custom track

Genomic Location for BTD Gene

15,601,341 bp from pter
15,647,642 bp from pter
46,302 bases
Plus strand

Genomic View for BTD Gene

Genes around BTD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTD Gene

Proteins for BTD Gene

  • Protein details for BTD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A6NHF2
    • B2R865
    • B4DFX1
    • B4DLJ9
    • B7Z7C9
    • F8W1Q3
    • Q96EM9

    Protein attributes for BTD Gene

    543 amino acids
    Molecular mass:
    61133 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BTD Gene


neXtProt entry for BTD Gene

Proteomics data for BTD Gene at MOPED

Post-translational modifications for BTD Gene

  • Glycosylation at Asn 119, Asn 150, Asn 203, Asn 349, Asn 402, and Asn 489
  • Modification sites at PhosphoSitePlus

Domains & Families for BTD Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 CN hydrolase domain.
  • Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.
  • Contains 1 CN hydrolase domain.
  • Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.
genes like me logo Genes that share domains with BTD: view

No data available for Gene Families for BTD Gene

Function for BTD Gene

Molecular function for BTD Gene

GENATLAS Biochemistry:
biotinidase,76.5kDa,microsomal,catalyzing the recycling of biotin
UniProtKB/Swiss-Prot CatalyticActivity:
Biotin amide + H(2)O = biotin + NH(3).
UniProtKB/Swiss-Prot Function:
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

Enzyme Numbers (IUBMB) for BTD Gene

genes like me logo Genes that share phenotypes with BTD: view

Human Phenotype Ontology for BTD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BTD Gene

MGI Knock Outs for BTD:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for BTD Gene

Localization for BTD Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTD Gene

Secreted, extracellular space.

Subcellular locations from

Jensen Localization Image for BTD Gene COMPARTMENTS Subcellular localization image for BTD gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytoskeleton 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BTD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with BTD: view

Pathways & Interactions for BTD Gene

genes like me logo Genes that share pathways with BTD: view

Interacting Proteins for BTD Gene

Gene Ontology (GO) - Biological Process for BTD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006768 biotin metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with BTD: view

No data available for SIGNOR curated interactions for BTD Gene

Drugs & Compounds for BTD Gene

(13) Drugs for BTD Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra 40
L-Lysine Approved Nutra Full agonist, Agonist 0

(17) Additional Compounds for BTD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Biotinyl-L-lysine
  • epsilon-N-Biotinyl-L-lysine
  • H-Lys(biotinyl)-OH
  • N-epsilon-Biotin-L-lysine
  • N6-D-Biotinyl-L-lysine
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
Biotin amide
  • Biotin amide
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with BTD: view

Transcripts for BTD Gene

Unigene Clusters for BTD Gene

Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BTD Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: -

Relevant External Links for BTD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BTD Gene

mRNA expression in normal human tissues for BTD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BTD Gene

This gene is overexpressed in Serum (27.4), Vitreous humor (13.1), and Plasma (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BTD Gene

SOURCE GeneReport for Unigene cluster for BTD Gene Hs.517830

genes like me logo Genes that share expression patterns with BTD: view

Protein tissue co-expression partners for BTD Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BTD Gene

Orthologs for BTD Gene

This gene was present in the common ancestor of animals.

Orthologs for BTD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BTD 35
  • 82.28 (n)
  • 78.39 (a)
BTD 36
  • 78 (a)
(Canis familiaris)
Mammalia BTD 35
  • 87.89 (n)
  • 84.77 (a)
BTD 36
  • 82 (a)
(Mus musculus)
Mammalia Btd 35
  • 83.46 (n)
  • 84.79 (a)
Btd 16
Btd 36
  • 84 (a)
(Pan troglodytes)
Mammalia BTD 35
  • 99.39 (n)
  • 99.27 (a)
BTD 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Btd 35
  • 81.28 (n)
  • 80.38 (a)
(Monodelphis domestica)
Mammalia BTD 36
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
-- 36
  • 71 (a)
(Gallus gallus)
Aves BTD 35
  • 65.02 (n)
  • 63.37 (a)
BTD 36
  • 60 (a)
(Anolis carolinensis)
Reptilia BTD 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia btd 35
  • 63.13 (n)
  • 59.88 (a)
(Danio rerio)
Actinopterygii btd 35
  • 57.29 (n)
  • 51.25 (a)
btd 36
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3599 37
  • 29 (a)
vanin-like 37
  • 28 (a)
vanin-like 35
  • 46.35 (n)
  • 34.27 (a)
Btd 36
  • 25 (a)
CG32750 36
  • 24 (a)
CG32751 36
  • 25 (a)
vanin-like 36
  • 26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010733 35
  • 45.89 (n)
  • 33.43 (a)
Species with no ortholog for BTD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BTD Gene

Gene Tree for BTD (if available)
Gene Tree for BTD (if available)

Paralogs for BTD Gene

Paralogs for BTD Gene

(3) SIMAP similar genes for BTD Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with BTD: view

Variants for BTD Gene

Sequence variations from dbSNP and Humsavar for BTD Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_005113 Biotinidase deficiency (BTD deficiency)
rs13073139 Biotinidase deficiency (BTD deficiency) 15,644,367(+) TGGTG(A/G)CCAAT reference, missense
VAR_005115 Biotinidase deficiency (BTD deficiency)
VAR_005116 Biotinidase deficiency (BTD deficiency)
rs13078881 Biotinidase deficiency (BTD deficiency) 15,645,186(+) TCTTT(C/G)ATGGG reference, missense

Variation tolerance for BTD Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTD Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BTD Gene

Disorders for BTD Gene

MalaCards: The human disease database

(19) MalaCards diseases for BTD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
biotinidase deficiency
  • biotin deficiency
multiple carboxylase deficiency
  • holocarboxylase synthetase deficiency
seborrheic dermatitis
  • other seborrheic dermatitis
holocarboxylase synthetase deficiency
  • biotin- ligase deficiency
biotin deficiency
  • b7 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BTD in MalaCards View complete list of genes associated with diseases


  • Biotinidase deficiency (BTD deficiency) [MIM:253260]: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. {ECO:0000269 PubMed:10206677, ECO:0000269 PubMed:9099842, ECO:0000269 PubMed:9654207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for BTD Gene

multiple carboxylase deficiency,late onset with feeding difficulties,hypotonia,seizures,lethargy, skin rash and metabolic acidosis,organic aciduria,biotinidase deficiency

Relevant External Links for BTD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BTD: view

Publications for BTD Gene

  1. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (PMID: 12618081) Dobrowolski S.F. … Naylor E.W. (Mol. Genet. Metab. 2003) 3 23 48 67
  2. Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase. (PMID: 18479898) Kobza K.A. … Zempleni J. (J. Nutr. Biochem. 2008) 3 23
  3. Profound biotinidase deficiency in a child with predominantly spinal cord disease. (PMID: 18645204) Chedrawi A.K. … Wolf B. (J. Child Neurol. 2008) 3 23
  4. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. (PMID: 15776412) Wolf B. … Slonim A.E. (Hum. Mutat. 2005) 3 23
  5. Seventeen novel mutations that cause profound biotinidase deficiency. (PMID: 12359137) Wolf B. … Sykut-Cegielska J. (Mol. Genet. Metab. 2002) 3 23

Products for BTD Gene

Sources for BTD Gene